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Ubr1 Gene Detail
Summary
  • Symbol
    Ubr1
  • Name
    ubiquitin protein ligase E3 component n-recognin 1
  • Synonyms
    E3 alpha
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277977
    NCBI Gene: 22222
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:120690750-120801196 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 60.37 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2498 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1277977
 protein coding gene Chr2:120690750-120801246 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026375
 protein coding gene Chr2:123726710-123843022 (-)
A/J MGP_AJ_G0026336
 protein coding gene Chr2:118665986-118778706 (-)
AKR/J MGP_AKRJ_G0026315
 protein coding gene Chr2:121988669-122108679 (-)
BALB/cJ MGP_BALBcJ_G0026349
 protein coding gene Chr2:118902866-119013907 (-)
C3H/HeJ MGP_C3HHeJ_G0026095
 protein coding gene Chr2:122479367-122597056 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026796
 protein coding gene Chr2:127787260-127914405 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024176
 protein coding gene Chr2:113698565-113822086 (-)
CAST/EiJ MGP_CASTEiJ_G0025557
 protein coding gene Chr2:122783998-122900014 (-)
CBA/J MGP_CBAJ_G0026071
 protein coding gene Chr2:132235908-132358636 (-)
DBA/2J MGP_DBA2J_G0026210
 protein coding gene Chr2:118054680-118177723 (-)
FVB/NJ MGP_FVBNJ_G0026172
 protein coding gene Chr2:116888936-116999993 (-)
LP/J MGP_LPJ_G0026311
 protein coding gene Chr2:123989677-124105375 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026191
 protein coding gene Chr2:136535276-136669046 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026851
 protein coding gene Chr2:122113354-122230177 (-)
PWK/PhJ MGP_PWKPhJ_G0025293
 protein coding gene Chr2:117668326-117779811 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025092
 protein coding gene Chr2:121328914-121448390 (-)
WSB/EiJ MGP_WSBEiJ_G0025626
 protein coding gene Chr2:122942947-123057405 (-)



Homology
more
  • Human Ortholog
    UBR1, ubiquitin protein ligase E3 component n-recognin 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    UBR1, ubiquitin protein ligase E3 component n-recognin 1
  • Synonyms
    JBS
  • Links
    NCBI Gene ID: 197131
    neXtProt AC: NX_Q8IWV7
    UniProt: Q8IWV7

  • Chr Location
    15q15.2
Human Diseases
more
  • Diseases
    1 with Ubr1 mouse models; 2 with human UBR1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 1 allele in 2 genetic backgrounds
    25 phenotypes from multigenic genotypes
    3 images
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mutants have 20% lower body weight and reduced muscle and adipose tissue. Skeletal muscle lacks a mechanism for targeting proteins for rapid catabolism. Aberrant regulation of fatty acid synthase upon starvation is also observed.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    10
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    852
  • Tissues
    128
  • cDNA Data
    25
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027272 Ensembl Gene Model | MGI Sequence Detail 110447 C57BL/6J ±  kb
    transcript ENSMUST00000028728 Ensembl | MGI Sequence Detail 7768 Not Applicable  
    polypeptide ENSMUSP00000028728 Ensembl | MGI Sequence Detail 1757 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000017012 E3 ubiquitin-protein ligase UBR1
      (term hierarchy)
    • EC
      2.3.2.27
    • InterPro Domains
      IPR003769 Adaptor protein ClpS, core
      IPR042065 E3 ubiquitin-protein ligase ELL-like
      IPR039164 E3 ubiquitin-protein ligase UBR1-like
      IPR047507 E3 ubiquitin-protein ligase UBR1, UBR-box
      IPR044046 E3 ubiquitin-protein ligase UBR-like, C-terminal
      IPR014719 Ribosomal protein bL12, C-terminal/adaptor protein ClpS-like
      IPR036390 Winged helix DNA-binding domain superfamily
      IPR003126 Zinc finger, UBR-type
    • GlyGen
      O70481 1 site, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 35
      Genomic 2
      cDNA 31
      Primer pair 1
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2138991
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 10
      Phenotypes 17
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory